VDR gene single nucleotide polymorphisms and their association with risk of oral cavity carcinoma

• Autorzy: Malodobra-Mazur M. , Paduch A. , Lebioda A. , Konopacka M. , Rogolinski J. , Szymczyk C. , Wierzgon J. , Maciejewski A. , Chmielik E. , Jonkisz A. , Poltorak S. , Dobosz T.
• Języki publikacji: EN

Abstrakty

EN

 Vitamin D3 (1,25(OH)2D3 (1,25-dihydroxyvitamin D3)) is a hormone playing a crucial role in numerous biological processes in the human body, including induction and control of cell proliferation and differentiation. Numerous data relate the vitamin D3 level with various types of cancer. It has been suggested that SNPs in the vitamin D3 receptor (VDR) gene might influence both the risk of cancer occurrence and cancer progression. The aim of this study was to search for genetic correlations between individual SNPs in the VDR gene and the risk of oral cavity carcinoma. Two SNPs were selected based on the literature and our previous results. Seventy-three patients with squamous cell carcinoma of the head and neck and one hundred control subjects were investigated. Two SNPs in the VDR gene were genotyped in minisequencing reactions followed by capillary electrophoresis. Hardy-Weinberg equilibrium (HWE), the χ2 test and logistic regression were used for statistical analysis. The SNP rs2238135 in the VDR gene displayed statistical differences in frequency between the tested groups (p=0,0007). Furthermore, the G/C genotype of the rs2238135 in the VDR gene was characterized by a 3.16 fold increased risk of oral cavity carcinoma. The obtained results provide evidence for a genetic association between rs2238135 in the VDR gene and the occurrence and risk of oral cavity cancer.

• Wydawca: -
• Czasopismo: Acta Biochimica Polonica
• Rocznik: 2012
• Tom: 59
• Numer: 4
• Opis fizyczny: p.627-630,fig.,ref.

Twórcy

autor

Malodobra-Mazur M.

• Department of Forensic Medicine, Molecular Technique Unit, Wrocław Medical University, Wrocław, Poland

autor

Paduch A.

• Department of Forensic Medicine, Molecular Technique Unit, Wrocław Medical University, Wrocław, Poland

autor

Lebioda A.

• Department of Forensic Medicine, Molecular Technique Unit, Wrocław Medical University, Wrocław, Poland

autor

Konopacka M.

• Center for Translational Research and Molecular Biology of Cancer Oncology, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland

autor

Rogolinski J.

• Center for Translational Research and Molecular Biology of Cancer Oncology, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland

autor

Szymczyk C.

• Oncologic Surgery Clinic, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland

autor

Wierzgon J.

• Oncologic Surgery Clinic, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland

autor

Maciejewski A.

• Oncologic Surgery Clinic, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland

autor

Chmielik E.

• Tumor Pathology Department, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland

autor

Jonkisz A.

• Department of Forensic Medicine, Molecular Technique Unit, Wrocław Medical University, Wrocław, Poland

autor

Poltorak S.

• Oncologic Surgery Clinic, Maria Skłodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice, Poland

autor

Dobosz T.

• Department of Forensic Medicine, Molecular Technique Unit, Wrocław Medical University, Wrocław, Poland

Bibliografia

• Bektas-Kayhan K, Unür M, Yaylim-Eraltan I, Ergen HA, Toptas B, Hafiz G, Karadeniz A, Isbir T (2010) Association of vitamin D receptor Taq I polymorphism and susceptibility to oral squamous cell carcinoma. In vivo 24: 755-759. 
• Bertone-Johnson ER, Chen WY, Holick MF, Hollis BW, Colditz GA, Willett WC, Hankinson SE (2005) Plasma 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 14: 1991-1997. 
• Buras RR, Schumaker LM, Davoodi F, Brenner RV, Shabahang M, Nauta RJ, Evans SR (1994) Vitamin D receptors in breast cancer cells. Breast Cancer Res Treat 31: 191-202. 
• Chung M, Balk EM, Brendel M, Ip S, Lau J, Lee J, Lichtenstein A, Patel K, Raman G, Tatsioni A, Terasawa T, Trikalinos TA (2009) Vitamin D and calcium: a systematic review of health outcomes. Evid Rep Technol Assess (Full Rep) 183: 1-420. 
• Field S, Newton-Bishop JA. (2011) Melanoma and Vitamin D. Mol Oncol 5: 197-214. 
• Forszt P, Pilecka A, Malodobra M, Markowska J, Maksymowicz K, Dobosz T (2009) Single-nucleotide polymorphism association study of VDR and CDH1 genes and risk of prostate cancer. Adv Clin Exp Med 18: 215-220.
• Halicka HD, Zhao H, Li J, Traganos F, Studzinski GP, Darzynkiewicz Z (2012) Attenuation of constitutive DNA damage signaling by 1,25-dihydroxyvitamin D3. Aging 4: 270-278. 
• Hendrickson WK, Flavin R, Kasperzyk JL, Fiorentino M, Fang F, Lis R, Fiore C, Penney KL, Ma J, Kantoff PW, Stampfer MJ, Loda M, Mucci LA, Giovannucci E (2011) Vitamin D receptor protein expression in tumor tissue and prostate cancer progression. J Clin Oncol 29: 2378-2385. 
• Holick CN, Stanford JL, Kwon EM, Ostrander EA, Nejentsev S, Peters U (2007) Comprehensive association analysis of the vitamin D pathway genes, VDR, CYP27B1, and CYP24A1, in prostate cancer. Cancer Epidemiol Biomarkers Prev 16: 1990-1999. 
• Kizildag S, Ates H, Kizildag S (2010) Treatment of K562 cells with 1,25-dihydroxyvitamin D3 induces distinct alterations in the expression of apoptosis-related genes BCL2, BAX, BCLXL, and p21. Ann Hematol 89: 1-7. 
• Kopij M, Rapak A (2008) The role of nuclear receptors in cell death. Postepy Hig Med Dosw 62: 571-581 (in Polish). 
• Köstner K, Denzer N, Müller CS, Klein R, Tilgen W, Reichrath J (2009) The relevance of vitamin D receptor (VDR) gene polymorphisms for cancer: a review of the literature. Anticancer Res 29: 3511-3536. 
• McCullough ML, Bostick RM, Mayo TL (2009) Vitamin D gene pathway polymorphisms and risk of colorectal, breast, and prostate cancer. Annu Rev Nutr 29: 111-132. 
• Molnár F, Sigüeiro R, Sato Y, Araujo C, Schuster I, Antony P, Peluso J, Muller C, Mouriño A, Moras D, Rochel N (2011) 1α,25(OH)2-3-epi-vitamin D3, a natural physiological metabolite of vitamin D3: its synthesis, biological activity and crystal structure with its receptor. PLoS One 6: e18124. 
• Moon S, Holley S, Bodiwala D, Luscombe CJ, French ME, Liu S, Saxby MF, Jones PW, Fryer AA, Strange RC (2006) Associations between G/A1229, A/G3944, T/C30875, C/T48200 and C/T65013 genotypes and haplotypes in the vitamin D receptor gene, ultraviolet radiation and susceptibility to prostate cancer. Ann Hum Genet 70: 226-236. 
• Nussey S, Whitehead S. (2001) Endocrinology: An Integrated Approach. pp 65-172. Oxford: BIOS Scientific Publishers, London, UK. 
• Raimondi S, Johansson H, Maisonneuve P, Gandini S (2009) Review and meta-analysis on vitamin D receptor polymorphisms and cancer risk. Carcinogenesis 30: 1170-1180. 
• Uitterlinden AG, Fang Y, Van Meurs JB, Pols HA, Van Leeuwen JP (2004) Genetics and biology of vitamin D receptor polymorphisms. Gene 338: 143-156. 
• Valdivielso JM (2009) The physiology of vitamin D receptor activation. Contrib Nephrol 163: 206-212. 
• Vanoirbeek E, Krishnan A, Eelen G, Verlinden L, Bouillon R, Feldman D, Verstuyf A (2011) The anti-cancer and anti-inflammatory actions of 1,25(OH)2D3. Best Pract Res Clin Endocrinol Metab 25: 593-604. 
• Yang ES, Burnstein KL (2003) Vitamin D inhibits G1 to S progression in LNCaP prostate cancer cells through p27Kip1 stabilization and Cdk2 mislocalization to the cytoplasm. J Biol Chem 278: 46862-46868. 
• Zmuda JM, Cauley JA, Ferrell RE (2000) Molecular epidemiology of vitamin D receptor gene variants. Epidemiol Rev 22: 203-217. 

Uwagi

rekord w opracowaniu